What Is Chordoma Cancer?

Chordoma tumors form from notochordal cells — remnants of the notochord, a structure in an embryo that’s replaced by the spine during the first trimester of development.

The exact reason why malignancies form in notochordal cells isn’t known or understood.

Around 95% of people with chordoma cancer have an SNP (snip) variation in the DNA sequence of their brachyury gene. This SNP variation doesn’t cause chordoma but increases the risk of developing it. Approximately 2 out of every 1 million people with this genetic variation get chordoma cancer.

There are a few instances of families who have several members with chordoma. This rare occurrence appears to be associated with having an extra copy of the brachyury gene.

Children born with the rare genetic condition tuberous sclerosis complex (TSC) are at a higher risk for developing chordoma cancer than most people without this condition. It’s thought that changes to the genes responsible for TSC may also heighten someone’s risk for chordoma cancer.

More research is needed on the hereditary and genetic causes of chordoma. There aren’t any lifestyle factors that cause this condition or increase the risk for it.

Chordoma symptoms vary based on the size and location of the tumor.

Chordoma tumors usually grow slowly but can become large. As they grow, chordoma tumors may push on the brain or parts of the spine. You may be able to feel a large chordoma from outside your skin, especially if the tumor is in your lower spine.

The range of possible symptoms may include:

• pain in the face, neck, head, and lower back
• numbness and tingling
• vision problems, including double vision
• paralysis of facial nerves
• headaches
• vomiting
• trouble swallowing
• problems with bowel or bladder control
• sexual (erectile) dysfunction
• leg pain

Chordoma cancer may also metastasize to other parts of the body, such as:

• lymph nodes
• lungs
• liver
• other bones

When it metastasizes elsewhere in the body, other symptoms you may experience can include:

• widespread pain
• fatigue
• loss of energy
• weakness

Because chordoma symptoms can be mistaken for symptoms of other conditions that can be either benign (noncancerous) or malignant (cancerous), you’ll need to be diagnosed through imaging tests and a biopsy.

A healthcare professional will do a physical exam to check for lumps, especially along your spinal column.

Imaging tests that may be used include:

• X-ray
• computerized tomography (CT scan)
• magnetic resonance imaging (MRI)

A biopsy uses a sample of tissue from a lump or area that’s suspected to be cancerous to make a definitive diagnosis of chordoma. There are two possible types of biopsy done for this condition:

• Needle aspiration: A hollow needle is inserted into the lump and used to extract tissue from the biopsy for analysis at a lab. No cuts or surgery are required for this type, and it’s often done when the lump is close to the skin’s surface.
• Surgical biopsy: A doctor cuts open the area that’s suspected to be cancerous and removes possibly cancerous tissue to be analyzed at a lab. This method may be used if the cancer is impossible to reach with a needle or isn’t close to the surface of the skin.

Your health, age, and other factors, such as tumor size and spread, are important considerations that will impact your treatment plan and possibly of being fully cured. Around 30%–40% of chordoma tumors eventually metastasize to other parts of the body, but this doesn’t mean that they’re not treatable.

Surgical removal of chordoma tumors is usually the first step of treatment for this condition. The location of chordomas in the spine or bones of the skull base can make them challenging to remove. Several surgeries may be required along with rounds of high dose radiation before the cancer is fully treated.

Chordomas can also recur in the same area of the body, requiring new rounds of treatment. Ongoing testing every few months after successful treatment is often needed to check for recurrence and spread.

Chemotherapy and targeted drug therapy are also being looked at as possible treatments for this condition. New types of radiation therapy techniques that better protect the healthy tissue surrounding the tumor are also being examined.

If you or a loved one is diagnosed with chordoma, your first thoughts may be about the survival rate.

Data about relative 5-year survival rates are gathered and maintained by the National Cancer Institute (NCI) and reported in the Surveillance, Epidemiology, and End Results (SEER) database. Knowing the 5-year relative survival rates for chordoma can be helpful, but it’s important to understand what exactly these rates mean.

Keep in mind that survival data is based on the experiences of people who were diagnosed more than 5 years ago. New treatments, investigational therapies, and individualized factors like age and overall health are not always represented in these figures.

Five-year relative survival rates are also not set in stone. Many people with this condition tend to live far longer than 5 years — your experience may vary significantly from the rates reported in these studies.

Chordoma cancer is a rare form of sarcoma that occurs in the base of the skull or spine. The first-line treatment for this condition is usually surgery to remove as much of the tumor as possible.

If a doctor suspects you have a chordoma or any other type of bone cancer, you’ll undergo imaging tests and a biopsy.

The 5-year relative survival rate for this condition is favorable, ranging from 86% for localized cancers to 61% for those that have metastasized to distant parts of the body.